A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Anomalies of the corpus callosum (AnCC) are congenital malformations associated with highly variable neurodevelopmental outcomes. We performed prenatal Exome Sequencing (pES) on a cohort of 352 fetuses diagnosed with AnCC, analyzing the diagnostic yield, the implicated genes based on the type of anomaly (partial or complete agenesis, short corpus callosum, or callosal dysgenesis) and assessing the impact on pregnancy outcomes. The overall diagnostic yield of pES was 23%, with pathogenic or likely pathogenic variants identified in 49 different genes, most of which linked to intellectual developmental disorders.

Optimizing ADAMTS13 prophylaxis to reduce relapse and organ failure in congenital thrombotic thrombocytopenic purpura.

Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by a severe inherited ADAMTS13 deficiency. While acute episodes are life-threatening, long-term burden of ischemic complications and effectiveness of prophylactic strategies remain underexplored. We conducted a 25-year national, multicenter study of 88 cTTP patients enrolled in the French Thrombotic Microangiopathy (TMA) registry.

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.

Objectives: Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non-invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation. The aim of this study was to identify the sonographic markers most strongly associated with achondroplasia, with the intention of enhancing the specificity of NIPD referrals and improving diagnostic efficiency, thereby supporting clinicians in their diagnostic approach.

Prevention and management of infectious diseases in pregnant women with haematological malignancies.

The incidence of haematological malignancies during pregnancy ranges from 4·0 to 15·8 cases per 100 000 pregnancies, with Hodgkin lymphoma, acute leukaemia, and aggressive B-cell non-Hodgkin lymphoma being the most frequent subtypes. Although survival rates are similar to those in patients who are not pregnant with similar disease profiles, pregnant women face higher risks of maternal morbidity, along with adverse obstetric and neonatal outcomes. Their management, therefore, requires a carefully balanced approach that minimises obstetric risks and ensures effective oncological control.

[Comprehensive care of placenta accreta: From diagnosis to clinical management].

The prevalence of abnormally invasive placenta (AIP) has increased over recent decades. AIP is associated with significant maternal morbidity, mainly due to the high risk of massive hemorrhage, the need for blood transfusions, urologic injuries, and the frequent use of hysterectomy. A multidisciplinary approach is essential, involving obstetricians, anesthesiologists, radiologists, surgeons, and intensive care specialists.

Safety of ifosfamide during pregnancy: A comprehensive analysis.

Objective: Little is known regarding the safety of ifosfamide in pregnant women and some case reports were associated with oligohydramnios. In the study, we performed a comprehensive analysis of the available data regarding the safety of ifosfamide in pregnant women.

Material And Methods: First, we performed a case-by-case review of the cases related to ifosfamide use during pregnancy that were spontaneously reported in the French Pharmacovigilance Database.

Impact of clomiphene citrate on multiple gestation births and perinatal outcomes: a nationwide cohort study.

Objective: To evaluate the occurrence of multiple gestation birth and perinatal adverse outcomes in pregnancies resulting from clomiphene citrate (CC) treatment compared with nonexposed pregnancies.

Design: Nationwide cohort study in a university hospital-based research center.

Subjects: Pregnancies lasting >22 weeks of gestation, in women aged 18-43 years between 2013 and 2019, recorded in the French health data warehouse (Système National des Données de Santé).

Histologic and molecular features shared between antibody-mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis.

Chronic histiocytic intervillositis (CHI) is an inflammatory condition of the placenta, characterised by an abnormal, mainly macrophagic infiltrate within the intervillous space. Recent research suggests that CHI results from a 'maternal-foetal rejection' mechanism, because at least some CHI cases fulfil the criteria for antibody-mediated rejection (AMR) of kidney allografts according to the Banff classification [i.e.

Comparative evaluation of two simulation technologies for obstetric ultrasound trainees' assessment.

Objective: The objective was to evaluate the performance of two different obstetric ultrasound simulators in assessing the practical skills of trainees compared to the standard method of practical assessment conducted on pregnant women volunteers.

Methods: We performed a prospective observational study. Two simulators were compared: the Simbionix simulator which uses a mannequin and heteroevaluation and the OPUS simulator which uses optical positioning technology with automatic assessment.

[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)].

Thrombotic Thrombocytopenic Purpura (TTP) is a rare disease characterized by a severe deficiency of ADAMTS13, the specific protease that cleaves von Willebrand factor. The congenital form of TTP (cTTP) results from pathogenic variants of the ADAMTS13 gene. cTTP has two peaks of incidence: one in childhood and the other in adulthood, mainly in an obstetric context.

Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.

Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021.

Evaluating the proteinuria/creatininuria ratio as a rapid prognostic tool for complications of preeclampsia: A comparison with 24-hour proteinuria.

Introduction: This study aimed to evaluate the agreement between the proteinuria/creatinuria (P/C) ratio and the traditional 24-hour proteinuria measurement for proteinuria levels above 3 g/24h in pregnant patients with preeclampsia. Additionally, we assessed whether high levels of each measurement are predictive of adverse maternal and neonatal outcomes.

Material And Methods: We conducted a monocentric retrospective study of pregnant patients hospitalized for preeclampsia between January 1, 2019, and November 11, 2020.

Fetal Therapy for Congenital Pulmonary Malformations: A Prospective Population-Based National Cohort Study.

Objective: To assess the frequency of fetal therapy for fetuses with congenital pulmonary malformations (CPMs) and to investigate their short-term outcomes.

Method: The study population included 435 singleton fetuses diagnosed with CPMs from a national population-based cohort study in France in 2015-2018. Information was obtained from medical records on CPM volume ratio (CVR), signs of compression, fetal therapy and perinatal outcomes.

Impact of different types of hypertensive disorders of pregnancy and their duration on incident post-partum risk of diabetes mellitus: Results from the French nationwide study CONCEPTION.

Aims: To evaluate the impact of onset time, duration, and severity of various types of hypertensive disorders of pregnancy (HDP) on the risk of incident DM.

Methods: We used data from the ongoing French nationwide prospective cohort study CONCEPTION. We included all primiparous women in CONCEPTION who delivered between 2010 and 2018 (n = 2,816,793 women).

Intravenous Immunoglobulins for Recurrent Chronic Histiocytic Intervillositis: A Series of Case Studies.

Introduction: Chronic histiocytic intervillositis (CHI) is a rare inflammatory placental disease characterized by diffuse infiltration of monocytes into the intervillous space and is associated with adverse pregnancy outcomes. No treatment is currently validated and although in some small reports, steroids with hydroxychloroquine have been described. There are no data for other therapies in refractory cases.

A live attenuated vaccine to prevent severe neonatal Escherichia coli K1 infections.

Preterm birth is currently the leading cause of neonatal morbidity and mortality. Genetic, immunological and infectious causes are suspected. Preterm infants have a higher risk of severe bacterial neonatal infections, most of which are caused by Escherichia coli an in particular E.

[How to respond to a stubborn refusal of care during delivery].

Our team was confronted with a situation of stubborn refusal of care, including the indication of a cesarean section for an adult patient able to express her wishes. This refusal was formulated during pregnancy follow-up, during the discussion of the birth plan and during delivery, the patient having accepted the indication of a possible emergency cesarean section under general anesthesia only in the occurrence of severe fetal heart rate abnormalities. The impasse forced caregivers to violate the rules of good clinical practice, which indicated the performance of a cesarean section, and to wait for a complication to arise in order to be able to act, taking the risk of intervening too late.